A novel frameshift mutation in the FGD1 gene causing Aarskog-Scott syndrome patient with hypogonadism: a case report.

ABSTRACT: Aarskog-Scott syndrome (AAS) is most commonly inherited as an X-linked recessive genetic disease caused by FGD1 mutations. AAS patients are most frequently male, and the clinical manifestations of facial abnormalities, skeletal deformities, and abnormal genitalia comprise a characteristic triad of diagnostic features. The results on the clinical and molecular analysis of a family that reveals a novel FGD1 gene frameshift mutation in an 11-year-old boy displaying bilateral cryptorchidism associated with hypogonadism are reported here. This patient exhibited a characteristic triad of diagnostic features of ASS, including short stature, facial abnormalities, joint laxity, and typical scrotal fold. Whole-exome sequencing revealed the novel hemizygous mutation c.500delA in exon 3

SUBMITTER: Jia H 

PROVIDER: S-EPMC8192999 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature